Literature DB >> 7471511

A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q).

L Hornstein, S Soukup.   

Abstract

A case of partial duplication 13q14 leads to qter is reported in a 9-year-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qtr;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.

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Mesh：

Year:  1981        PMID： 7471511     DOI： 10.1111/j.1399-0004.1981.tb00675.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  Familial pericentric inversion (13) detected by antenatal diagnosis.

Authors:  E L Maltby
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

3.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it.

Authors:  T Motegi; M Komatsu; Y Nakazato; M Ohuchi; K Minoda
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
  4 in total

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